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GLE1 Rabbit pAb (bs-13371R)  
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產品編號 bs-13371R
英文名稱 GLE1 Rabbit pAb
中文名稱 核孔蛋白GLE1抗體
別    名 GLE 1; GLE1; GLE1 like protein; GLE1 like RNA export mediator; GLE1 RNA export mediator homolog; GLE1 RNA export mediator like(yeast); GLE1-like protein; GLE1_HUMAN; GLE1L; hGLE1; LCCS 1; LCCS; LCCS1; Nucleoporin GLE1.  
研究領域 染色質和核信號  信號轉導  轉運蛋白  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Rat (predicted: Human,Mouse,Pig,Sheep,Cow,Dog,Horse)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 80 kDa
檢測分子量
細胞定位 細胞核 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human GLE1: 611-698/698 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 Protein transport across the nucleus is a selective, multi-step process involving several cytoplasmic factors that mediate protein passage through the nuclear pore complex (NPC). Gle1, also known as GLE1L, is a 698 amino acid protein that localizes to both the nucleus and the cytoplasm and belongs to the Gle1 family. Expressed as two alternatively spliced isoforms, Gle1 associates with the NPC and is required for the transport of poly(A)-containing mRNAs from the nucleus to the cytoplasm. Defects in the gene encoding Gle1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), the former of which is characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia and prenatal death, while the latter is associated with respiratory failure.

Function:
Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).

Subunit:
Associated with the NPC, it however may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUPL2. Isoform 2 does not interact with NUPL2. Able to form a heterotrimer with NUP155 and NUPL2 in vitro.

Subcellular Location:
Nucleus. Cytoplasm. Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function and Cytoplasm. Nucleus > nuclear pore complex. Shuttles between the nucleus and the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is essential for its mRNA export function.

DISEASE:
Defects in GLE1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]; also known as multiple contracture syndrome type Finnish. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia, multiple joint contractures, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS1 leads to prenatal death. Defects in GLE1 are the cause of lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]. LAAHD is characterized by fetal akinesia, arthrogryposis and motor neuron loss. LAADH fetus often survive delivery, but die early as a result of respiratory failure. Neuropathological findings resemble those of LCCS1, but are less severe.

Similarity:
Belongs to the GLE1 family.

SWISS:
Q53GS7

Gene ID:
2733

Database links:

Entrez Gene: 2733 Human

Entrez Gene: 74412 Mouse

Entrez Gene: 362098 Rat

GenBank: BC030012 Human

Omim: 603371 Human

SwissProt: Q53GS7 Human

SwissProt: Q8R322 Mouse

SwissProt: Q4KLN4 Rat

Unigene: 522418 Human

Unigene: 275121 Mouse

Unigene: 162648 Rat



產品圖片
Paraformaldehyde-fixed, paraffin embedded (rat testis); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GLE1) Polyclonal Antibody, Unconjugated (bs-13371R) at 1:5000 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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